2227[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	ABHD8, ADGRE2 +695 more	Copy number gain	See cases	GPathogenic
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	ABHD8, AKAP8 +574 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	LOC130064154, LOC130064155 +625 more	Copy number gain	See cases	GPathogenic
Select item 1205163	NC_000019.10:g.18782619C>G	COMP	Single nucleotide variant	not provided	GLikely benign
Select item 369261	NM_000095.2(COMP):c.*155G>C	COMP	Single nucleotide variant	Multiple Epiphyseal Dysplasia, Dominant +1 more	GLikely benign
Select item 328606	NM_000095.3(COMP):c.*111A>G	COMP	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 328607	NM_000095.3(COMP):c.*92G>A	COMP	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 1 +2 more	GBenign/Likely benign
Select item 1241724	NM_000095.3(COMP):c.*61G>A	COMP	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 328608	NM_000095.3(COMP):c.*15A>G	COMP	Single nucleotide variant (3 prime UTR variant)	Multiple epiphyseal dysplasia type 1 +1 more	GBenign
Select item 255117	NM_000095.3(COMP):c.*1G>C	COMP	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 890687	NM_000095.3(COMP):c.2272T>C (p.Ter758Gln)	COMP	Single nucleotide variant (stop lost)	COMP-related disorder	GUncertain significance
Select item 255124	NM_000095.3(COMP):c.2267A>G (p.Gln756Arg)	COMP (Q756R)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign
Select item 2998102	NM_000095.3(COMP):c.2264G>A (p.Arg755Gln)	COMP (R755Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1084802	NM_000095.3(COMP):c.2263C>T (p.Arg755Trp)	COMP (R755W)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 194913	NM_000095.3(COMP):c.2262G>A (p.Leu754=)	COMP	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1463173	NM_000095.3(COMP):c.2245T>C (p.Tyr749His)	COMP (Y749H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1383008	NM_000095.3(COMP):c.2242G>A (p.Asp748Asn)	COMP (D748N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001282	NM_000095.3(COMP):c.2232C>A (p.Thr744=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3019600	NM_000095.3(COMP):c.2230A>T (p.Thr744Ser)	COMP (T744S)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1016344	NM_000095.3(COMP):c.2228-3C>T	COMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2810727	NM_000095.3(COMP):c.2228-12C>T	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1636372	NM_000095.3(COMP):c.2228-19G>A	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1531068	NM_000095.3(COMP):c.2228-20C>T	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 255123	NM_000095.3(COMP):c.2228-40T>C	COMP	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1565069	NM_000095.3(COMP):c.2227+18G>A	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1948516	NM_000095.3(COMP):c.2227+13C>T	COMP	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 328609	NM_000095.3(COMP):c.2227+8G>A	COMP	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 2907793	NM_000095.3(COMP):c.2227+7C>T	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 500271	NM_000095.3(COMP):c.2226T>C (p.Asn742=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 9197	NM_000095.3(COMP):c.2223dup (p.Asn742fs)	COMP (N742fs)	Duplication (frameshift variant)	Multiple epiphyseal dysplasia type 1	GPathogenic
Select item 1377568	NM_000095.3(COMP):c.2219G>A (p.Arg740His)	COMP (R740H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 891938	NM_000095.3(COMP):c.2213G>A (p.Arg738His)	COMP (R738H)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1903385	NM_000095.3(COMP):c.2212C>T (p.Arg738Cys)	COMP (R738C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2091390	NM_000095.3(COMP):c.2208C>A (p.Asn736Lys)	COMP (N736K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1010414	NM_000095.3(COMP):c.2187G>A (p.Gln729=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683446	NM_000095.3(COMP):c.2170dup (p.Val724fs)	COMP (V724fs)	Duplication (frameshift variant)	Multiple epiphyseal dysplasia type 1	GLikely pathogenic
Select item 1572672	NM_000095.3(COMP):c.2166G>C (p.Leu722=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 9194	NM_000095.3(COMP):c.2156G>A (p.Gly719Asp)	COMP (G719D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1483239	NM_000095.3(COMP):c.2155G>T (p.Gly719Cys)	COMP (G719C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 40997	NM_000095.3(COMP):c.2155G>A (p.Gly719Ser)	COMP (G719S)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 65557	NM_000095.3(COMP):c.2153G>C (p.Arg718Pro)	COMP (R718P)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 769450	NM_000095.3(COMP):c.2152C>A (p.Arg718=)	COMP	Single nucleotide variant (synonymous variant)	Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more	GBenign/Likely benign
Select item 9198	NM_000095.3(COMP):c.2152C>T (p.Arg718Trp)	COMP (R718W)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 635466	NM_000095.3(COMP):c.2150T>G (p.Met717Arg)	COMP (M717R)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 1628868	NM_000095.3(COMP):c.2133G>A (p.Val711=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2972736	NM_000095.3(COMP):c.2130C>T (p.Asn710=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2189065	NM_000095.3(COMP):c.2122G>A (p.Asp708Asn)	COMP (D708N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510992	NM_000095.3(COMP):c.2092C>T (p.Arg698Ter)	COMP (R698*)	Single nucleotide variant (nonsense)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 1895964	NM_000095.3(COMP):c.2090T>C (p.Val697Ala)	COMP (V697A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132645	NM_000095.3(COMP):c.2089G>A (p.Val697Met)	COMP (V697M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1899949	NM_000095.3(COMP):c.2088-2_2088-1del	COMP	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 811446	NM_000095.3(COMP):c.2088-4T>C	COMP	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1256827	NM_000095.3(COMP):c.2087+98C>T	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1595574	NM_000095.3(COMP):c.2087+11C>T	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1556403	NM_000095.3(COMP):c.2082C>T (p.Tyr694=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2006628	NM_000095.3(COMP):c.2078dup (p.Tyr694fs)	COMP (Y694fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2504690	NM_000095.3(COMP):c.2077G>T (p.Gly693Cys)	COMP (G693C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2859608	NM_000095.3(COMP):c.2073A>G (p.Gln691=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1390963	NM_000095.3(COMP):c.2065C>T (p.Arg689Trp)	COMP (R689W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2791134	NM_000095.3(COMP):c.2048G>C (p.Arg683Pro)	COMP (R683P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2692035	NM_000095.3(COMP):c.2048G>T (p.Arg683Leu)	COMP (R683L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1698391	NM_000095.3(COMP):c.2048G>A (p.Arg683His)	COMP (R683H)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia type 1	GUncertain significance
Select item 3004929	NM_000095.3(COMP):c.2047C>G (p.Arg683Gly)	COMP (R683G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901875	NM_000095.3(COMP):c.2047C>T (p.Arg683Cys)	COMP (R683C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 65556	NM_000095.3(COMP):c.2042C>G (p.Ser681Cys)	COMP (S681C)	Single nucleotide variant (missense variant)	Multiple epiphyseal dysplasia	Gnot provided
Select item 1542868	NM_000095.3(COMP):c.2034C>T (p.Asp678=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2512325	NM_000095.3(COMP):c.2032G>A (p.Asp678Asn)	COMP (D678N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2956564	NM_000095.3(COMP):c.2019C>T (p.Asn673=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 891939	NM_000095.3(COMP):c.2014C>T (p.Arg672Ter)	COMP (R672*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 1037572	NM_000095.3(COMP):c.2012C>A (p.Pro671Gln)	COMP (P671Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1034755	NM_000095.3(COMP):c.1993C>T (p.Arg665Trp)	COMP (R665W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 328610	NM_000095.3(COMP):c.1993C>A (p.Arg665=)	COMP	Single nucleotide variant (synonymous variant)	Multiple epiphyseal dysplasia type 1 +1 more	GUncertain significance
Select item 2892650	NM_000095.3(COMP):c.1989G>C (p.Gln663His)	COMP (Q663H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1105505	NM_000095.3(COMP):c.1988A>T (p.Gln663Leu)	COMP (Q663L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3023317	NM_000095.3(COMP):c.1982_1983del (p.Glu661fs)	COMP (E661fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 2818196	NM_000095.3(COMP):c.1982A>G (p.Glu661Gly)	COMP (E661G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 597282	NM_000095.3(COMP):c.1981G>A (p.Glu661Lys)	COMP (E661K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2122673	NM_000095.3(COMP):c.1979_1980del (p.Thr660fs)	COMP (T660fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 328611	NM_000095.3(COMP):c.1979C>G (p.Thr660Arg)	COMP (T660R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1699763	NM_000095.3(COMP):c.1978A>G (p.Thr660Ala)	COMP (T660A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2135248	NM_000095.3(COMP):c.1969A>G (p.Thr657Ala)	COMP (T657A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825233	NM_000095.3(COMP):c.1967A>G (p.His656Arg)	COMP (H656R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2172966	NM_000095.3(COMP):c.1962G>A (p.Leu654=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1511790	NM_000095.3(COMP):c.1957G>A (p.Ala653Thr)	COMP (A653T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 777452	NM_000095.3(COMP):c.1956C>T (p.Asn652=)	COMP	Single nucleotide variant (synonymous variant)	Connective tissue disorder +3 more	GBenign/Likely benign
Select item 1039475	NM_000095.3(COMP):c.1954A>G (p.Asn652Asp)	COMP (N652D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1921273	NM_000095.3(COMP):c.1952G>A (p.Arg651Gln)	COMP (R651Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800468	NM_000095.3(COMP):c.1951C>T (p.Arg651Trp)	COMP (R651W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2955164	NM_000095.3(COMP):c.1939G>A (p.Gly647Arg)	COMP (G647R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1571128	NM_000095.3(COMP):c.1938C>T (p.Pro646=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2843974	NM_000095.3(COMP):c.1929C>T (p.Ser643=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1376661	NM_000095.3(COMP):c.1924T>A (p.Ser642Thr)	COMP (S642T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 255121	NM_000095.3(COMP):c.1915-45C>T	COMP	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1217492	NM_000095.3(COMP):c.1915-96C>T	COMP	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1287397	NM_000095.3(COMP):c.1915-197C>T	COMP	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2772129	NM_000095.3(COMP):c.1914G>C (p.Lys638Asn)	COMP (K638N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2098882	NM_000095.3(COMP):c.1898C>T (p.Pro633Leu)	COMP (P633L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 889494	NM_000095.3(COMP):c.1894G>A (p.Glu632Lys)	COMP (E632K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1903859	NM_000095.3(COMP):c.1893C>T (p.Ala631=)	COMP	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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